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Cowden Syndrome
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The incidence of Cowden's disease is about 1 in 200,000, making it quite rare. Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies. It is associated with mutations in PTEN on 10q23.3, a tumor suppressor gene otherwise known as phosphatase and tensin homolog, that results in dysregulation of the mTOR pathway leading to errors in cell proliferatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Papillary Thyroid Cancer
Papillary thyroid cancer or papillary thyroid carcinoma is the most common type of thyroid cancer, representing 75 percent to 85 percent of all thyroid cancer cases.Chapter 20 in: 8th edition. It occurs more frequently in women and presents in the 20–55 year age group. It is also the predominant cancer type in children with thyroid cancer, and in patients with thyroid cancer who have had previous radiation to the head and neck. It is often well- differentiated, slow-growing, and localized, although it can metastasize. Diagnosis Papillary thyroid carcinoma is usually discovered on routine examination as an asymptomatic thyroid nodule that appears as a neck mass. In some instances, the mass may have produced local symptoms. This mass is normally referred to a fine needle aspiration biopsy (FNA) for investigation. FNA accuracy is very high and it is a process widely used in these cases. Other investigation methods include ultrasound imaging and nuclear scan. The ultrasound is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bannayan–Riley–Ruvalcaba Syndrome
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz–Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes. Signs and symptoms Bannayan–Riley–Ruvalcaba syndrome is associated with enlarged head and benign mesodermal hamartomas (multiple hemangiomas, and intestinal polyps). Dysmorphy as well as delayed neuropsychomotor development can also be present.update 2016 The head enlargement does not cause widening of the ventricles or raised intracranial pressure; these individuals have a higher risk of dev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lhermitte–Duclos Disease
Lhermitte–Duclos disease (LDD) (), also called dysplastic gangliocytoma of the cerebellum, is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. It is often associated with Cowden syndrome. It was described by Jacques Jean Lhermitte and P. Duclos in 1920. Signs and symptoms Main clinical signs and symptoms include: * headache * movement disorders * tremor * visual disturbances * abnormal EEG * Diplopia Patients with Lhermitte–Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, may cause neurological injury including abnormal movements. MICROSCOPY (lhermitte-duclos disease) 1>Enlarged circumscribed cerebellar folia 2>internal granular layer is focally indistinct and is occupied by large ganglion cells 3>myelinated tracks in outer molecular layer 4>underlying white matter is atrophic and gli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autism Spectrum
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulties in social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to sensory stimuli. Autism is generally understood as a '' spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support people require, and the same person may present differently at varying times. Historicall ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a condition where the head is longer than would be expected, relative to its width. In humans, scaphocephaly is a form of dolichocephaly. Dolichocephalic dogs (such as German Shepherds) have elongated noses. This makes them vulnerable to fungal diseases of the nose such as aspergillosis. In humans the anterior–posterior diameter (length) of dolichocephaly head is more than the transverse diameter (width). It can be present in cases of Sensenbrenner syndrome, Crouzon syndrome, Sotos syndrome, CMFTD as well as Marfan syndrome Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints a .... See also * Brachycephaly * Cephalic index * Plagiocephaly References External links Congenit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Megalencephaly
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population. A mutation in the PI3K-AKT pathway is believed to be the primary cause of brain proliferation and ultimately the root cause of megalencephaly. This mutation has produced a classification of brain overdevelopment that consists of two syndromes including megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly- polymicrogyria-hydrocephalus (MPPH). Megalencephaly is usually diagnosed at birth and is confirmed with an MRI. There are several neuropsychiatric disorders linked with megalencephaly; however, studies have shown that autism is the most prevalent association with the malformation of MEG. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrocystic Breast Changes
Fibrocystic breast changes is a condition of the breasts where there may be pain, breast cysts, and breast masses. The breasts may be described as "lumpy" or "doughy". Symptoms may worsen during certain parts of the menstrual cycle due to hormonal stimulation. These are normal breast changes, not associated with cancer. Risk factors include an early age at first menstrual period and either having children at a late age or not at all. It is not a disease but represents normal breast changes. Diagnosis involves ruling out breast cancer. Fibrocystic changes include fibroadenomas, fibrosis, and papillomas of the breast. Management may involve education about the condition, using a well fitting bra, and pain medication, if needed. Occasionally danazol or tamoxifen may be used for pain. It is estimated that up to 60% of women are affected. Most commonly between the ages of 30 and 50 years. Signs and symptoms The changes in fibrocystic breast disease are characterised by the app ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibroadenoma
Fibroadenomas are benign breast tumours characterized by an admixture of stromal and epithelial tissue. Breasts are made of lobules (milk producing glands) and ducts (tubes that carry the milk to the nipple). These are surrounded by glandular, fibrous and fatty tissues. Fibroadenomas develop from the lobules. The glandular tissue and ducts grow over the lobule to form a solid lump. Since both fibroadenomas and breast lumps as a sign of breast cancer can appear similar, it is recommended to perform ultrasound analyses and possibly tissue sampling with subsequent histopathologic analysis in order to make a proper diagnosis. Unlike typical lumps from breast cancer, fibroadenomas are easy to move, with clearly defined edges. Fibroadenomas are sometimes called breast mice or a breast mouse owing to their high mobility in the breast. Signs and symptoms Fibroadenomas are benign tumours of the breast, most often present in women in their 20s and 30s. Clinically, fibroadenomas ar ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intraductal Papilloma
Intraductal papillomas of the breast are benign lesions with an incidence of approximately 2-3% in humans. They result from abnormal proliferation of the epithelial cells lining the breast ducts. Two types of intraductal papillomas are generally distinguished. The central type develops near the nipple. They are usually solitary and often arise in the years nearing menopause. On the other hand, the peripheral type are often multiple papillomas arising at the peripheral ducts, and are usually found in younger women. The peripheral type are associated with a higher risk of malignancy. They are the most common cause of bloody nipple discharge in women age 20-40 and generally do not show up on mammography Mammography (also called mastography) is the process of using low-energy X-rays (usually around 30 kVp) to examine the human breast for diagnosis and screening. The goal of mammography is the early detection of breast cancer, typically through ... due to their small size. They m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycogenic Acanthosis
Glycogenic acanthosis are small raised white plaques commonly seen in the esophageal mucosa. Ghahremani GG, Rushovich AM. Glycogenic acanthosis of the esophagus: radiographic and pathologic features. ''Gastrointest Radiol.'' 1984;9(2):93-8. . It is seen incidentally in 3.5% of gastroscopies.Vadva MD, Triadafilopoulos G. Glycogenic acanthosis of the esophagus and gastroesophageal reflux. ''J Clin Gastroenterol''. 1993 Jul;17(1):79-83. Signs and symptoms On gastroscopy, glycogenic acanthosis is seen as a multitude of small white raised plaques of 2 mm to 10 mm in size, which may be seen throughout the esophagus. They tend to occur on esophageal folds, and may be missed if the esophagus is not well distended with air. It may be seen on esophageal x-rays; it is not seen on standard esophograms, but can be seen with double-contrast studies. Biopsies of the lesions show hypertrophied stratified squamous mucosa with glycogen deposition in the mucosa. Clinically, m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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